Center of Biomedical Research Excellence (COBRE) in Human Genetics

Common and rare genetic diseases affect a large fraction of the world’s population. Elucidating the mechanisms by which naturally occurring genetic variants affect disease risk requires multidisciplinary expertise in quantitative, population, molecular, cellular and developmental genetics; statistics, bioinformatics and computational biology; and functional genomics in cell culture and animal models. The Center of Biomedical Research Excellence (COBRE) in Human Genetics constitutes a unique partnership between the Clemson University Center for Human Genetics and the Greenwood Genetic Center. Research in the COBRE in Human Genetics focuses on understanding the genetic, genomic, and epigenetic mechanisms by which molecular genetic variation affects rare and common diseases. The COBRE in Human Genetics supports four research projects from junior investigators that tackle several of the outstanding challenges facing modern human genetics, including the roles of human long non-coding RNAs in risk for human disease, the effects of structural variation on disease phenotypes and gene regulation, development of animal models for rare diseases, and incorporating context-dependent effects into statistical models predicting complex trait phenotypes from large-scale genetic variation data. The research performed by the project leaders of the COBRE in Human Genetics will provide new knowledge of the mechanisms by which molecular genetic variation affects variation in complex traits in health and disease.